COLAO, A.; JAFFRAIN-REA, M.; BECKERS, A.
Auto-immune polyglandular syndromes (APS): an overview
The natural history of APS1: pathogenesis and long term follow-up
The genetics of AIRE: an update
Auto-antibodies in polyendocrine auto-immune disorders: an update
Rare forms of endocrine and systemic auto-immune disorders: IPEX and "other POEMS"
Auto-immune endocrine diseases and cancer immunotherapy
Part 2: MEN1: an update on molecular diagnosis and clinical implications
MEN2: an update on molecular diagnosis and clinical implications
MEN4 and other MEN1-like syndrome
Genetic alterations in the cAMP pathway: MAS, Carney complex (and AIP?)
Endocrine tumours associated with SDHx mutations: pheochromocytomas, paragangliomas and pituitary adenomas
Endocrine tumours in complex genetic disorders: lessons from pheochromocytomas and hyperparathyroidism.
This comprehensive reference book is meant to support clinicians in the diagnosis and treatment of polyendocrine diseases and endocrine neoplastic syndromes.
Although a large majority of endocrine diseases present as sporadic cases, an increasing proportion can be identified as part of a polyendocrine or systemic syndrome. These include autoimmune endocrine diseases, which may be part of autoimmune polyendocrine disorders (APS) or rare complex disorders such as POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) or IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndromes. On the other hand, endocrine tumors may develop in a variety of clinical conditions, including multiple endocrine neoplasia (MEN) syndromes, syndromic diseases such as McCune Albright or Carney’s complex, or peculiar familial associations such as pheochromocytoma/paraganglioma syndromes.
The book discusses the significant advances that have been made in the clinical and genetic characterization of such entities, with major implications in terms of diagnosis and clinical management - with special attention to emerging syndromes, familial screening , multidisciplinarity and multimodal treatment.
This volume is intended for clinicians, residents, specialists and physicians involved in the diagnosis and treatment of affected patients, including specialists in endocrinology, internal medicine, oncology , genetics and imaging.
• Provides comprehensive insights into the diagnosis and treatment of polyendocrine auto-immune disorders
• Provides comprehensive insights into the diagnosis and treatment of polyendocrine neoplastic syndromes
• Written by international experts in the field and illustrated by clinical case reports